Details of Disease

General Information of Disease (ID: DIS35M1T)

• Disease Name: Rahman syndrome
• Synonyms: RMNS; Rahman syndrome; autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
• Definition: Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}).
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DIS35M1T: Rahman syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0044323
  UMLS CUI: C4479637
  OMIM ID: 617537
  MedGen ID: 1388282

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
H1-4	OTQ450A3	Definitive	Autosomal dominant	[1]

References

• [1] HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. Am J Med Genet A. 2019 Oct;179(10):2049-2055. doi: 10.1002/ajmg.a.61321. Epub 2019 Aug 9.